Mutagenetix > Incidental Mutation

Incidental Mutation 'R8391:Ppp1r12c'

647380

Institutional Source

Beutler Lab

Gene Symbol

Ppp1r12c

Ensembl Gene

ENSMUSG00000019254

Gene Name

protein phosphatase 1, regulatory subunit 12C

Synonyms

Mbs85, 2410197A17Rik

MMRRC Submission

067756-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.108) question?

Stock #

R8391 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

4484519-4504679 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 4500431 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Aspartic acid at position 150 (Y150D)

Ref Sequence

ENSEMBL: ENSMUSP00000013886 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000013886] [ENSMUST00000124248] [ENSMUST00000125220]

AlphaFold

Q3UMT1

Predicted Effect

probably damaging
Transcript: ENSMUST00000013886
AA Change: Y150D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000013886
Gene: ENSMUSG00000019254
AA Change: Y150D

Domain	Start	End	E-Value	Type
low complexity region	6	20	N/A	INTRINSIC
low complexity region	74	97	N/A	INTRINSIC
ANK	104	133	3.71e-4	SMART
ANK	137	166	3.43e-8	SMART
low complexity region	205	210	N/A	INTRINSIC
ANK	230	259	7.95e-4	SMART
ANK	263	292	2.41e-3	SMART
low complexity region	369	385	N/A	INTRINSIC
low complexity region	401	413	N/A	INTRINSIC
internal_repeat_2	450	508	2.86e-5	PROSPERO
internal_repeat_2	545	599	2.86e-5	PROSPERO
low complexity region	631	649	N/A	INTRINSIC
Pfam:PRKG1_interact	682	782	9.7e-33	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000124248
AA Change: Y71D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000120029
Gene: ENSMUSG00000019254
AA Change: Y71D

Domain	Start	End	E-Value	Type
ANK	25	54	3.71e-4	SMART
ANK	58	87	3.43e-8	SMART
low complexity region	126	131	N/A	INTRINSIC
ANK	151	180	7.95e-4	SMART
ANK	184	213	2.41e-3	SMART
low complexity region	290	306	N/A	INTRINSIC
low complexity region	322	334	N/A	INTRINSIC
PDB:2KJY\|A	445	498	3e-11	PDB
low complexity region	553	571	N/A	INTRINSIC
coiled coil region	604	704	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000125220

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The gene encodes a subunit of myosin phosphatase. The encoded protein regulates the catalytic activity of protein phosphatase 1 delta and assembly of the actin cytoskeleton. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf3	T	C	16: 20,368,968 (GRCm39)	S155P	possibly damaging	Het
Akr1c21	C	T	13: 4,626,278 (GRCm39)	R101W	probably damaging	Het
Angpt1	T	A	15: 42,375,794 (GRCm39)	N154I	probably damaging	Het
Aoc1l2	T	C	6: 48,909,602 (GRCm39)	W616R	probably damaging	Het
Atp2a1	T	A	7: 126,047,888 (GRCm39)	I641F	possibly damaging	Het
Bach1	G	A	16: 87,516,179 (GRCm39)	R240Q	probably benign	Het
Bltp3b	T	C	10: 89,645,605 (GRCm39)	V1226A	possibly damaging	Het
Cacna1b	G	A	2: 24,596,212 (GRCm39)	A493V	probably damaging	Het
Cacna1h	G	A	17: 25,596,204 (GRCm39)	A1939V	probably benign	Het
Cacna2d4	A	G	6: 119,325,706 (GRCm39)	I1027V	probably benign	Het
Cbln3	G	A	14: 56,120,523 (GRCm39)	R170C	probably damaging	Het
Cemip	T	C	7: 83,604,517 (GRCm39)	S842G	probably damaging	Het
Cep164	T	A	9: 45,718,491 (GRCm39)	Q284L	unknown	Het
Crybg2	T	C	4: 133,803,035 (GRCm39)	F889L	probably damaging	Het
Fhip1a	T	C	3: 85,595,788 (GRCm39)	N366D	probably damaging	Het
Gars1	T	A	6: 55,025,127 (GRCm39)	Y124N	probably damaging	Het
Gbp2b	T	C	3: 142,309,894 (GRCm39)	F228S	probably damaging	Het
Gm5565	C	A	5: 146,096,962 (GRCm39)	R59L	probably benign	Het
Gm8947	A	T	1: 151,068,737 (GRCm39)	D190V	probably benign	Het
Grid2ip	T	C	5: 143,365,951 (GRCm39)	M543T	probably damaging	Het
Gucy2c	A	G	6: 136,681,213 (GRCm39)	L957P	probably damaging	Het
Hint1	T	C	11: 54,757,368 (GRCm39)	I18T	possibly damaging	Het
Il23r	T	C	6: 67,429,374 (GRCm39)	S323G	probably benign	Het
Iqcf3	T	G	9: 106,438,175 (GRCm39)	E16A	unknown	Het
Kcnj1	A	T	9: 32,308,028 (GRCm39)	T151S	probably damaging	Het
Kdm1a	G	T	4: 136,281,154 (GRCm39)	T685K	probably benign	Het
Lipo4	T	A	19: 33,488,965 (GRCm39)	H206L	probably benign	Het
Lrp5	A	G	19: 3,654,185 (GRCm39)	Y1081H	probably damaging	Het
Masp1	A	T	16: 23,289,128 (GRCm39)	H557Q	possibly damaging	Het
Nhsl1	C	T	10: 18,400,691 (GRCm39)	T605I	possibly damaging	Het
Or1af1	T	A	2: 37,110,277 (GRCm39)	Y259N	probably damaging	Het
Or1j21	C	T	2: 36,684,096 (GRCm39)	P283S	probably damaging	Het
Pkmyt1	C	T	17: 23,954,013 (GRCm39)	R307C	probably damaging	Het
Plppr4	T	C	3: 117,129,060 (GRCm39)	I136V	probably benign	Het
Qrich2	C	G	11: 116,356,403 (GRCm39)	V149L	probably benign	Het
R3hdm1	T	C	1: 128,121,215 (GRCm39)	F176L		Het
Ric8a	T	A	7: 140,437,916 (GRCm39)	S52T	probably benign	Het
Romo1	G	T	2: 155,986,340 (GRCm39)		probably benign	Het
Rps6ka1	G	A	4: 133,591,346 (GRCm39)	H318Y	probably damaging	Het
Slc43a3	A	G	2: 84,768,151 (GRCm39)	N41S	probably benign	Het
Srrm4	T	G	5: 116,582,755 (GRCm39)	T567P	unknown	Het
Srsf12	C	G	4: 33,226,070 (GRCm39)	P111R	probably damaging	Het
St6galnac4	G	T	2: 32,484,086 (GRCm39)	D95Y	probably damaging	Het
Sult2a6	T	C	7: 13,956,516 (GRCm39)		probably null	Het
Synj2	A	G	17: 5,991,796 (GRCm39)	E24G	probably damaging	Het
Try10	T	G	6: 41,334,306 (GRCm39)	L166R	probably damaging	Het
Ttn	A	G	2: 76,562,544 (GRCm39)	V28767A	probably damaging	Het
Ttn	T	A	2: 76,604,822 (GRCm39)	I18371F	probably damaging	Het
Zc3h13	T	A	14: 75,568,625 (GRCm39)	L1306Q	probably damaging	Het
Zp2	T	A	7: 119,726,179 (GRCm39)	T674S	probably benign	Het
Zscan4-ps3	A	G	7: 11,346,801 (GRCm39)	Y279C	probably benign	Het

Other mutations in Ppp1r12c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01124:Ppp1r12c	APN	7	4,500,344 (GRCm39)	splice site	probably benign
IGL01419:Ppp1r12c	APN	7	4,489,351 (GRCm39)	splice site	probably null
IGL02126:Ppp1r12c	APN	7	4,492,858 (GRCm39)	missense	probably benign	0.43
IGL03388:Ppp1r12c	APN	7	4,485,069 (GRCm39)	unclassified	probably benign
PIT4418001:Ppp1r12c	UTSW	7	4,504,266 (GRCm39)	missense	probably null	0.09
R0523:Ppp1r12c	UTSW	7	4,492,771 (GRCm39)	missense	probably damaging	1.00
R0815:Ppp1r12c	UTSW	7	4,489,365 (GRCm39)	missense	probably damaging	1.00
R0863:Ppp1r12c	UTSW	7	4,489,365 (GRCm39)	missense	probably damaging	1.00
R1413:Ppp1r12c	UTSW	7	4,487,443 (GRCm39)	splice site	probably null
R1522:Ppp1r12c	UTSW	7	4,500,424 (GRCm39)	missense	probably damaging	1.00
R1835:Ppp1r12c	UTSW	7	4,486,650 (GRCm39)	missense	probably damaging	1.00
R2004:Ppp1r12c	UTSW	7	4,485,974 (GRCm39)	nonsense	probably null
R2170:Ppp1r12c	UTSW	7	4,485,805 (GRCm39)	missense	possibly damaging	0.76
R3787:Ppp1r12c	UTSW	7	4,489,583 (GRCm39)	missense	probably damaging	1.00
R3833:Ppp1r12c	UTSW	7	4,485,785 (GRCm39)	unclassified	probably benign
R4093:Ppp1r12c	UTSW	7	4,486,366 (GRCm39)	missense	probably damaging	0.99
R4095:Ppp1r12c	UTSW	7	4,486,366 (GRCm39)	missense	probably damaging	0.99
R4108:Ppp1r12c	UTSW	7	4,489,565 (GRCm39)	missense	probably damaging	1.00
R5177:Ppp1r12c	UTSW	7	4,487,495 (GRCm39)	nonsense	probably null
R5319:Ppp1r12c	UTSW	7	4,486,983 (GRCm39)	missense	probably benign	0.01
R5561:Ppp1r12c	UTSW	7	4,489,355 (GRCm39)	critical splice donor site	probably null
R5739:Ppp1r12c	UTSW	7	4,500,281 (GRCm39)	missense	probably damaging	1.00
R5837:Ppp1r12c	UTSW	7	4,500,403 (GRCm39)	intron	probably benign
R6531:Ppp1r12c	UTSW	7	4,485,788 (GRCm39)	critical splice donor site	probably null
R7207:Ppp1r12c	UTSW	7	4,492,867 (GRCm39)	missense	probably damaging	1.00
R7507:Ppp1r12c	UTSW	7	4,486,970 (GRCm39)	missense	probably benign	0.01
R7920:Ppp1r12c	UTSW	7	4,486,354 (GRCm39)	missense	probably benign	0.00
R7934:Ppp1r12c	UTSW	7	4,488,416 (GRCm39)	nonsense	probably null
R8397:Ppp1r12c	UTSW	7	4,492,768 (GRCm39)	missense	probably damaging	0.98
R8793:Ppp1r12c	UTSW	7	4,485,887 (GRCm39)	missense	probably benign
R8851:Ppp1r12c	UTSW	7	4,487,703 (GRCm39)	missense	probably damaging	1.00
R8974:Ppp1r12c	UTSW	7	4,486,698 (GRCm39)	missense	probably damaging	1.00
R9114:Ppp1r12c	UTSW	7	4,485,792 (GRCm39)	missense	possibly damaging	0.83
Z1177:Ppp1r12c	UTSW	7	4,487,628 (GRCm39)	missense	probably benign	0.28

Predicted Primers

PCR Primer
(F):5'- TTAATCCCATAGGCCCACCTCG -3'
(R):5'- AAAAGTCTCCTCGTTGGTCCTC -3'

Sequencing Primer
(F):5'- GCGAGTGATCTCTGCCTTCAG -3'
(R):5'- CCTCTGGCTGGGTGAGATGAG -3'

Posted On

2020-09-02